Canonical Allele Identifier: CA1977295849

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 1991512
• ClinVar RCV Id: RCV002790676
• dbSNP Id: rs1858700702

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392672T>A , CM000673.2:g.61392672T>A	GRCh38
NC_000011.9:g.61160144T>A , CM000673.1:g.61160144T>A	GRCh37
NC_000011.8:g.60916720T>A	NCBI36
NG_032976.1:g.5313T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334888.10:c.34+7T>A	ENSP00000334844.5:n.34+7T>A
ENST00000544795.6:n.86T>A
ENST00000684926.1:n.43T>A
ENST00000688959.1:c.-233T>A	ENSP00000509213.1:n.-233T>A
ENST00000690736.1:c.34+7T>A	ENSP00000508542.1:n.34+7T>A
ENST00000515837.7:c.34+7T>A MANE Select	ENSP00000440638.1:n.34+7T>A
ENST00000334888.9:c.34+7T>A	ENSP00000334844.5:n.34+7T>A
ENST00000398979.7:c.-157T>A	ENSP00000381950.3:n.-157T>A
ENST00000515837.6:c.34+7T>A	ENSP00000440638.1:n.34+7T>A
ENST00000541473.1:n.41T>A
ENST00000544795.5:n.43T>A
NM_001173990.2:c.34+7T>A	NP_001167461.1:n.34+7T>A
NM_001173991.2:c.34+7T>A	NP_001167462.1:n.34+7T>A
NM_016499.5:c.-157T>A	NP_057583.2:n.-157T>A
XM_005274039.3:c.-291T>A	XP_005274096.1:n.-291T>A
NM_001330285.1:c.-157T>A	NP_001317214.1:n.-157T>A
XM_005274039.4:c.-291T>A	XP_005274096.1:n.-291T>A
NM_001173990.3:c.34+7T>A MANE Select	NP_001167461.1:n.34+7T>A
NM_001173991.3:c.34+7T>A	NP_001167462.1:n.34+7T>A
NM_001330285.2:c.-157T>A	NP_001317214.1:n.-157T>A
NM_016499.6:c.-157T>A	NP_057583.2:n.-157T>A